Canonical Allele Identifier: CA155761

Gene: TRAPPC9

Linked Data

• ClinVar Variation Id: 130621
• ClinVar RCV Id: RCV000118667 ; RCV000261001 ; RCV000956678 ; RCV002313929
• dbSNP Id: rs34179337
• ExAC: 8:141370186 G / A
• gnomAD v2: 8-141370186-G-A
• gnomAD v3: 8-140360087-G-A
• gnomAD v4: 8-140360087-G-A
• MyVariant Identifiers: chr8:g.141370186G>A (hg19) ; chr8:g.140360087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.140360087G>A , CM000670.2:g.140360087G>A	GRCh38
NC_000008.10:g.141370186G>A , CM000670.1:g.141370186G>A	GRCh37
NC_000008.9:g.141439368G>A	NCBI36
NG_016478.2:g.103493C>T
NG_016478.3:g.103493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438773.4:c.1458C>T MANE Select	ENSP00000405060.3:p.Phe486=
ENST00000648948.2:c.1458C>T	ENSP00000498020.1:p.Phe486=
ENST00000389328.8:c.1752C>T	ENSP00000373979.4:p.Phe584=
ENST00000438773.2:c.1458C>T	ENSP00000405060.2:p.Phe486=
ENST00000520857.5:c.988C>T
NM_001160372.2:c.1458C>T	NP_001153844.1:p.Phe486=
NM_031466.6:c.1752C>T	NP_113654.4:p.Phe584=
XM_005251077.3:c.1458C>T	XP_005251134.1:p.Phe486=
XM_011517326.1:c.1725C>T	XP_011515628.1:p.Phe575=
XM_011517327.1:c.1752C>T	XP_011515629.1:p.Phe584=
XM_011517328.1:c.1752C>T	XP_011515630.1:p.Phe584=
XM_011517329.1:c.846C>T	XP_011515631.1:p.Phe282=
XR_928355.1:n.1767C>T
NM_001160372.3:c.1458C>T	NP_001153844.1:p.Phe486=
NM_001321646.1:c.1431C>T	NP_001308575.1:p.Phe477=
NM_031466.7:c.1752C>T	NP_113654.4:p.Phe584=
XM_011517326.2:c.1725C>T	XP_011515628.1:p.Phe575=
XM_011517328.2:c.1752C>T	XP_011515630.1:p.Phe584=
XM_017013893.1:c.1752C>T	XP_016869382.1:p.Phe584=
XM_017013894.2:c.78C>T	XP_016869383.1:p.Phe26=
XR_928355.2:n.1767C>T
NM_001160372.4:c.1458C>T MANE Select	NP_001153844.1:p.Phe486=
NM_001321646.2:c.1431C>T	NP_001308575.1:p.Phe477=
NM_001374682.1:c.1479C>T	NP_001361611.1:p.Phe493=
NM_001374683.1:c.1458C>T	NP_001361612.1:p.Phe486=
NM_001374684.1:c.1351+10877C>T	NP_001361613.1:n.1351+10877C>T
NM_031466.8:c.1458C>T	NP_113654.5:p.Phe486=
NR_164662.1:n.1547C>T